Canonical Allele Identifier: CA382834259
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491205G>A , CM000673.2:g.118491205G>A GRCh38
NC_000011.9:g.118361920G>A , CM000673.1:g.118361920G>A GRCh37
NC_000011.8:g.117867130G>A NCBI36
NG_027813.1:g.59716G>A , LRG_613:g.59716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4805G>A ENSP00000432391.3:p.Cys1602Tyr
ENST00000710560.1:c.4805G>A ENSP00000518343.1:p.Cys1602Tyr
ENST00000685498.1:c.482G>A ENSP00000509293.1:p.Cys161Tyr
ENST00000691053.1:c.4706G>A ENSP00000509168.1:p.Cys1569Tyr
ENST00000389506.10:c.4706G>A ENSP00000374157.5:p.Cys1569Tyr
ENST00000534358.8:c.4706G>A MANE Select ENSP00000436786.2:p.Cys1569Tyr
ENST00000649699.1:c.4592G>A ENSP00000496927.1:p.Cys1531Tyr
ENST00000389506.9:c.4706G>A ENSP00000374157.5:p.Cys1569Tyr
ENST00000392873.3:c.842G>A ENSP00000376612.3:p.Cys281Tyr
ENST00000534358.5:c.4706G>A ENSP00000436786.1:p.Cys1569Tyr
NM_001197104.1:c.4706G>A , LRG_613t1:c.4706G>A NP_001184033.1:p.Cys1569Tyr
NM_005933.3:c.4706G>A NP_005924.2:p.Cys1569Tyr
XM_006718839.2:c.2189G>A XP_006718902.2:p.Cys730Tyr
XM_011542829.1:c.4805G>A XP_011541131.1:p.Cys1602Tyr
XM_011542830.1:c.4802G>A XP_011541132.1:p.Cys1601Tyr
XM_011542831.1:c.4805G>A XP_011541133.1:p.Cys1602Tyr
XM_011542832.1:c.2612G>A XP_011541134.1:p.Cys871Tyr
XM_011542833.1:c.2288G>A XP_011541135.1:p.Cys763Tyr
XM_006718839.3:c.2189G>A XP_006718902.2:p.Cys730Tyr
XM_011542829.2:c.4805G>A XP_011541131.1:p.Cys1602Tyr
XM_011542830.2:c.4802G>A XP_011541132.1:p.Cys1601Tyr
XM_011542831.2:c.4805G>A XP_011541133.1:p.Cys1602Tyr
XM_011542833.2:c.2288G>A XP_011541135.1:p.Cys763Tyr
NM_001197104.2:c.4706G>A MANE Select NP_001184033.1:p.Cys1569Tyr
NM_005933.4:c.4706G>A NP_005924.2:p.Cys1569Tyr